Osler disease; Osler syndrome; telangiectasia disease; Rendu-Osler disease, hemangiomas
Definition
Osler’s disease is a hereditary disease of the blood vessels. Two internists (Dr. Osler from Canada and Dr. Rendu from France) described this disease for the first time at the end of the 19th century and gave it the name “Osler’s disease”. Typical are dilations of small vessels with a tendency to burst.
Bleeding on the skin, mucous membranes and internal organs as well as visible vascular cartilages (hemangiomas, telangiectasias) are among the main symptoms. The most frequent symptom is a nosebleed that is difficult to stop. Unfortunately, a causal treatment of Osler’s disease is not yet possible because it is a genetic defect. However, an adequate symptomatic therapy promises success.
Cause
Osler’s disease is a rare autosomal-dominant disease. Who was diagnosed with this disease certainly knows a parent who suffers from the same symptoms. The molecular cause of Osler’s disease lies in a defect in two important genes (endoglin and ALK-1), which are responsible for the production of vascular-stabilizing substances (proteins for the inner lining of the vessels). If these substances are missing because the “template” (=genes) is defective, the vessels are unstable and tear faster. This is called “luck in misfortune”, because only the smallest vessels (=capillaries) are affected by Osler’s disease and there would never be any acutely life-threatening vessel ruptures.
Symptoms of Osler’s disease
The first symptoms of Osler’s disease usually manifest themselves as frequent nosebleeds. The bleeding occurs suddenly and is difficult to stop. However, sudden bleeding can also occur in other parts of the body, but preferably in the mucous membranes of the nose, mouth and also in the internal organs.
In some cases, bleeding may occur in the stomach or intestines. If a bleeding occurs here, it is unfortunately noticed late and shows complications due to increased blood loss (anemia). In a few cases, bleeding has occurred in the lungs or brain.
This can lead to a bloody cough or headache symptoms. The vessels that bleed easily are very thin, tear quickly and also form short circuits between veins and arteries (arteriovenous malformations). Such short-circuits look like pinhead large vesicles (hemangiomas, telangiectasias) and are painless. The vascular changes do not appear until early adulthood and persist from then on. In middle age, Osler’s disease increases the probability of forming further vascular nodules (telangiectasias), now also on the fingers and fingertips.